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Identification of five novel SCN1A variants

BackgroundEpilepsy is characterized by recurrent unprovoked seizures. Mutations in the voltage-gated sodium channel alpha subunit 1 (SCN1A) gene are the main monogenic cause of epilepsy. Type and location of variants make a huge difference in the severity of SCN1A disorder, ranging from the mild phe...

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Huvudupphov: Baitao Zeng, Haoyi Zhang, Qing Lu, Qingzi Fu, Yang Yan, Wan Lu, Pengpeng Ma, Chuanxin Feng, Jiawei Qin, Laipeng Luo, Bicheng Yang, Yongyi Zou, Yanqiu Liu
Materialtyp: Artigo
Språk:Inglês
Utgiven: Frontiers Media S.A. 2023-11-01
Serie:Frontiers in Behavioral Neuroscience
Ämnen:
SCN1A
epilepsy
Dravet syndrome
de novo
seizures
Länkar:https://www.frontiersin.org/articles/10.3389/fnbeh.2023.1272748/full
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